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SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121 “The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.” Types of mutations
youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
Young c.980T-C p.Leu327Pro
clinvar.com
SYNGAP1 c.980C-T 2015 UK
pubmed.ncbi.nlm.nih.gov/26079862
2018 SK
pubmed.ncbi.nlm.nih.gov/29390993
SRF iPSCs
syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lin
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